Full data view for gene PSMA7

Information The variants shown are described using the NM_002792.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.335C>A r.(?) p.(Ala112Asp) Unknown - likely pathogenic g.60714850G>T g.62139794G>T NM_002792.2:c.335C>A (Ala112Asp) - PSMA7_000003 candidate variant PubMed: de Ligt 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 23033978-Trio06 PubMed: de Ligt 2012 - M - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.415G>C r.(?) p.(Asp139His) Unknown - VUS g.60714187C>G g.62139131C>G PSMA7(NM_002792.3):c.415G>C (p.(Asp139His)) - LSM14B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486T>C r.(?) p.(Gly162=) Unknown - benign g.60713332A>G g.62138276A>G PSMA7(NM_002792.3):c.486T>C (p.G162=) - LSM14B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507C>T r.(?) p.(Arg169=) Unknown - benign g.60713311G>A g.62138255G>A PSMA7(NM_002792.3):c.507C>T (p.R169=) - PSMA7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.592-29T>C r.(=) p.(=) Unknown - benign g.60712511A>G g.62137455A>G PSMA7(NM_002792.3):c.592-29T>C - PSMA7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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